Moore AT - Search Results

1

NMNAT1 mutations cause Leber congenital amaurosis.

Falk MJ, Zhang Q, Nakamaru-Ogiso E, Kannabiran C, Fonseca-Kelly Z, Chakarova C, Audo I, Mackay DS, Zeitz C, Borman AD, Staniszewska M, Shukla R, Palavalli L, Mohand-Said S, Waseem NH, Jalali S, Perin JC, Place E, Ostrovsky J, Xiao R, Bhattacharya SS, Consugar M, Webster AR, Sahel JA, Moore AT, Berson EL, Liu Q, Gai X, Pierce EA. Falk MJ, et al. Among authors: moore at. Nat Genet. 2012 Sep;44(9):1040-5. doi: 10.1038/ng.2361. Epub 2012 Jul 29. Nat Genet. 2012. PMID: 22842227 Free PMC article.

2

A new locus for dominant "zonular pulverulent" cataract, on chromosome 13.

Mackay D, Ionides A, Berry V, Moore A, Bhattacharya S, Shiels A. Mackay D, et al. Am J Hum Genet. 1997 Jun;60(6):1474-8. doi: 10.1086/515468. Am J Hum Genet. 1997. PMID: 9199569 Free PMC article.

3

A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q.

Shiels A, Mackay D, Ionides A, Berry V, Moore A, Bhattacharya S. Shiels A, et al. Am J Hum Genet. 1998 Mar;62(3):526-32. doi: 10.1086/301762. Am J Hum Genet. 1998. PMID: 9497259 Free PMC article.

4

Anterior polar cataract: clinical spectrum and genetic linkage in a single family.

Ionides A, Berry V, Mackay D, Shiels A, Bhattacharya S, Moore A. Ionides A, et al. Eye (Lond). 1998;12 ( Pt 2):224-6. doi: 10.1038/eye.1998.53. Eye (Lond). 1998. PMID: 9683943

5

Connexin46 mutations in autosomal dominant congenital cataract.

Mackay D, Ionides A, Kibar Z, Rouleau G, Berry V, Moore A, Shiels A, Bhattacharya S. Mackay D, et al. Am J Hum Genet. 1999 May;64(5):1357-64. doi: 10.1086/302383. Am J Hum Genet. 1999. PMID: 10205266 Free PMC article.

6

Clinical and genetic heterogeneity in autosomal dominant cataract.

Ionides A, Francis P, Berry V, Mackay D, Bhattacharya S, Shiels A, Moore A. Ionides A, et al. Br J Ophthalmol. 1999 Jul;83(7):802-8. doi: 10.1136/bjo.83.7.802. Br J Ophthalmol. 1999. PMID: 10381667 Free PMC article.

7

Missense mutations in MIP underlie autosomal dominant 'polymorphic' and lamellar cataracts linked to 12q.

Berry V, Francis P, Kaushal S, Moore A, Bhattacharya S. Berry V, et al. Nat Genet. 2000 May;25(1):15-7. doi: 10.1038/75538. Nat Genet. 2000. PMID: 10802646

8

Functional impairment of lens aquaporin in two families with dominantly inherited cataracts.

Francis P, Chung JJ, Yasui M, Berry V, Moore A, Wyatt MK, Wistow G, Bhattacharya SS, Agre P. Francis P, et al. Hum Mol Genet. 2000 Sep 22;9(15):2329-34. doi: 10.1093/oxfordjournals.hmg.a018925. Hum Mol Genet. 2000. PMID: 11001937

9

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.

Alexander C, Votruba M, Pesch UE, Thiselton DL, Mayer S, Moore A, Rodriguez M, Kellner U, Leo-Kottler B, Auburger G, Bhattacharya SS, Wissinger B. Alexander C, et al. Nat Genet. 2000 Oct;26(2):211-5. doi: 10.1038/79944. Nat Genet. 2000. PMID: 11017080

10

Congenital progressive polymorphic cataract caused by a mutation in the major intrinsic protein of the lens, MIP (AQP0).

Francis P, Berry V, Bhattacharya S, Moore A. Francis P, et al. Br J Ophthalmol. 2000 Dec;84(12):1376-9. doi: 10.1136/bjo.84.12.1376. Br J Ophthalmol. 2000. PMID: 11090476 Free PMC article.

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